| Different pain phenotypes are associated with anti-Caspr2 autoantibodies. | Different pain phenotypes are associated with anti-Caspr2 autoantibodies.
Greguletz P, Plötz M, Baade-Büttner C, Bien CG, Eisenhut K, Geis C, Handreka R, Klausewitz J, Körtvelyessy P, Kovac S, Kraft A, Lewerenz J, Malter M, Nagel M, von Podewils F, Prüß H, Rada A, Rau J, Rauer S, Rößling R, Seifert-Held T, Siebenbrodt K, Sühs KW, Tauber SC, Thaler F, Wagner J, Wickel J, Leypoldt F, Rittner HL, Sommer C, Villmann C, Doppler K, GENERATE study group., Free PMC Article | 05/8/2024 |
| Novel and known minor alleles of CNTNAP2 gene variants are associated with comorbidity of intellectual disability and epilepsy phenotypes: a case-control association study reveals potential biomarkers. | Novel and known minor alleles of CNTNAP2 gene variants are associated with comorbidity of intellectual disability and epilepsy phenotypes: a case-control association study reveals potential biomarkers.
Ul Mudassir B, Agha Z. | 03/8/2024 |
| Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants. | Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants.
Panza N, Bianchini C, Cetica V, Balestrini S, Barba C, Ferrari AR, Mei D, Parmeggiani L, Parrini E, Guerrini R., Free PMC Article | 02/12/2024 |
| Loss of CNTNAP2 Alters Human Cortical Excitatory Neuron Differentiation and Neural Network Development. | Loss of CNTNAP2 Alters Human Cortical Excitatory Neuron Differentiation and Neural Network Development.
St George-Hyslop F, Haneklaus M, Kivisild T, Livesey FJ. | 11/21/2023 |
| Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder. | Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V., Free PMC Article | 07/12/2023 |
| Effect of CNTNAP2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay. | Effect of CNTNAP2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay.
Shiota Y, Hirosawa T, Yoshimura Y, Tanaka S, Hasegawa C, Iwasaki S, Sano M, An KM, Yokoyama S, Kikuchi M., Free PMC Article | 10/8/2022 |
| PTPRD and CNTNAP2 as markers of tumor aggressiveness in oligodendrogliomas. | PTPRD and CNTNAP2 as markers of tumor aggressiveness in oligodendrogliomas.
Rautajoki KJ, Jaatinen S, Tiihonen AM, Annala M, Vuorinen EM, Kivinen A, Rauhala MJ, Maass KK, Pajtler KW, Yli-Harja O, Helén P, Haapasalo J, Haapasalo H, Zhang W, Nykter M., Free PMC Article | 08/27/2022 |
| Human CASPR2 Antibodies Reversibly Alter Memory and the CASPR2 Protein Complex. | Human CASPR2 Antibodies Reversibly Alter Memory and the CASPR2 Protein Complex.
Joubert B, Petit-Pedrol M, Planagumà J, Mannara F, Radosevic M, Marsal M, Maudes E, García-Serra A, Aguilar E, Andrés-Bilbé A, Gasull X, Loza-Alvarez P, Sabater L, Rosenfeld MR, Dalmau J. | 05/21/2022 |
| Shed CNTNAP2 ectodomain is detectable in CSF and regulates Ca(2+) homeostasis and network synchrony via PMCA2/ATP2B2. | Shed CNTNAP2 ectodomain is detectable in CSF and regulates Ca(2+) homeostasis and network synchrony via PMCA2/ATP2B2.
Martín-de-Saavedra MD, Dos Santos M, Culotta L, Varea O, Spielman BP, Parnell E, Forrest MP, Gao R, Yoon S, McCoig E, Jalloul HA, Myczek K, Khalatyan N, Hall EA, Turk LS, Sanz-Clemente A, Comoletti D, Lichtenthaler SF, Burgdorf JS, Barbolina MV, Savas JN, Penzes P., Free PMC Article | 04/16/2022 |
| Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C. | Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.
Tosca L, Drévillon L, Mouka A, Lecerf L, Briand A, Ortonne V, Benoit V, Brisset S, Van Maldergem L, Laudouar Q, Heide S, Goossens M, Giurgea I, Tachdjian G, Métay C., Free PMC Article | 03/19/2022 |
| Common variants of the autism-associated CNTNAP2 gene contribute to the modulatory effect of social function mediated by temporal cortex. | Common variants of the autism-associated CNTNAP2 gene contribute to the modulatory effect of social function mediated by temporal cortex.
Li D, Zhang L, Bai T, Huang W, Ji GJ, Yang T, Zhang Y, Tian Y, Qiu B, Wang K. | 01/29/2022 |
| A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability. | A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability.
Shiota Y, Hirosawa T, Yoshimura Y, Tanaka S, Hasegawa C, Iwasaki S, An KM, Soma D, Sano M, Yokoyama S, Kikuchi M., Free PMC Article | 01/22/2022 |
| The Role of CNTNAP2 in Itch Sensation. | The Role of CNTNAP2 in Itch Sensation.
Mishra SK., Free PMC Article | 01/15/2022 |
| CNTNAP2 gene polymorphisms in autism spectrum disorder and language impairment among Bangladeshi children: a case-control study combined with a meta-analysis. | CNTNAP2 gene polymorphisms in autism spectrum disorder and language impairment among Bangladeshi children: a case-control study combined with a meta-analysis.
Uddin MS, Azima A, Aziz MA, Aka TD, Jafrin S, Millat MS, Siddiqui SA, Uddin MG, Hussain MS, Islam MS. | 01/1/2022 |
| Serum and CSF cytokine levels mirror different neuroimmunological mechanisms in patients with LGI1 and Caspr2 encephalitis. | Serum and CSF cytokine levels mirror different neuroimmunological mechanisms in patients with LGI1 and Caspr2 encephalitis.
Körtvelyessy P, Goihl A, Guttek K, Schraven B, Prüss H, Reinhold D. | 12/11/2021 |
| Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder. | Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder.
de Jong JO, Llapashtica C, Genestine M, Strauss K, Provenzano F, Sun Y, Zhu H, Cortese GP, Brundu F, Brigatti KW, Corneo B, Migliori B, Tomer R, Kushner SA, Kellendonk C, Javitch JA, Xu B, Markx S., Free PMC Article | 09/25/2021 |
| Altered cingulate structures and the associations with social awareness deficits and CNTNAP2 gene in autism spectrum disorder. | Altered cingulate structures and the associations with social awareness deficits and CNTNAP2 gene in autism spectrum disorder.
Chien YL, Chen YC, Gau SS., Free PMC Article | 09/18/2021 |
| Association between Genetic Variants in DUSP15, CNTNAP2, and PCDHA Genes and Risk of Childhood Autism Spectrum Disorder. | Association between Genetic Variants in DUSP15, CNTNAP2, and PCDHA Genes and Risk of Childhood Autism Spectrum Disorder.
Fang F, Ge M, Liu J, Zhang Z, Yu H, Zhu S, Xu L, Shao L., Free PMC Article | 08/14/2021 |
| Clinical characteristics of patients double positive for CASPR2 and LGI1-antibodies. | Clinical characteristics of patients double positive for CASPR2 and LGI1-antibodies.
Jia Y, Shi H, Ye J, Wang Y. | 06/26/2021 |
| Anti-contactin-associated protein-like 2 antibody-associated cerebellar ataxia: A case report and literature review. | Anti-contactin-associated protein-like 2 antibody-associated cerebellar ataxia: A case report and literature review.
Wang J, Qiu Z, Li D, Dong H, Hao J, Liu Z. | 05/29/2021 |
| Disrupted AMPA Receptor Function upon Genetic- or Antibody-Mediated Loss of Autism-Associated CASPR2. | Disrupted AMPA Receptor Function upon Genetic- or Antibody-Mediated Loss of Autism-Associated CASPR2.
Fernandes D, Santos SD, Coutinho E, Whitt JL, Beltrão N, Rondão T, Leite MI, Buckley C, Lee HK, Carvalho AL., Free PMC Article | 01/23/2021 |
| CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension. | CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension.
Syrbe S, Stettner GM, Bally J, Borggraefe I, Bien CI, Ferfoglia RI, Huppke P, Kern J, Polster T, Probst-Müller E, Schmid S, Steinfeld R, Strozzi S, Weichselbaum A, Weitz M, Ziegler A, Wandinger KP, Leypoldt F, Bien CG. | 09/12/2020 |
| Common variant of CNTNAP2 gene modulate the social performances and functional connectivity of posterior right temporoparietal junction. The A-allele carriers showed poor social performance (high AQ-social and short fixation time on eye areas) compared with the GG carriers. | Common variant of CNTNAP2 gene modulate the social performances and functional connectivity of posterior right temporoparietal junction.
Bai T, Zhang L, Xie X, Xiao G, Huang W, Li D, Zu M, Wei L, Zuo X, J I GJ, Hu P, Zhu C, Qiu B, Tian Y, Wang K., Free PMC Article | 05/23/2020 |
| Contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, plays an essential role in neural development. | Association between CNTNAP2 polymorphisms and autism: A family-based study in the chinese han population and a meta-analysis combined with GWAS data of psychiatric genomics consortium.
Zhang T, Zhang J, Wang Z, Jia M, Lu T, Wang H, Yue W, Zhang D, Li J, Wang L. | 04/4/2020 |
| Significant association between GDNF variant rs2973033 CNTNAP2 variant rs2530311 with gambling. | Association of GDNF and CNTNAP2 gene variants with gambling.
Das A, Pagliaroli L, Vereczkei A, Kotyuk E, Langstieh B, Demetrovics Z, Barta C., Free PMC Article | 02/29/2020 |